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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 1-15770513-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=15770513&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 15770513,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001024215.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Arg216Cys",
"transcript": "NM_017556.4",
"protein_id": "NP_060026.2",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 373,
"cds_start": 646,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000375766.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017556.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Arg216Cys",
"transcript": "ENST00000375766.8",
"protein_id": "ENSP00000364921.3",
"transcript_support_level": 2,
"aa_start": 216,
"aa_end": null,
"aa_length": 373,
"cds_start": 646,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017556.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375766.8"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Arg216Cys",
"transcript": "ENST00000441801.6",
"protein_id": "ENSP00000416387.2",
"transcript_support_level": 1,
"aa_start": 216,
"aa_end": null,
"aa_length": 374,
"cds_start": 646,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441801.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Arg216Cys",
"transcript": "ENST00000375771.5",
"protein_id": "ENSP00000364926.1",
"transcript_support_level": 1,
"aa_start": 216,
"aa_end": null,
"aa_length": 373,
"cds_start": 646,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375771.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Arg216Cys",
"transcript": "ENST00000915887.1",
"protein_id": "ENSP00000585946.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 397,
"cds_start": 646,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915887.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Arg216Cys",
"transcript": "ENST00000908351.1",
"protein_id": "ENSP00000578410.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 385,
"cds_start": 646,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908351.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Arg216Cys",
"transcript": "ENST00000915876.1",
"protein_id": "ENSP00000585935.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 385,
"cds_start": 646,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915876.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Arg216Cys",
"transcript": "NM_001024215.1",
"protein_id": "NP_001019386.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 374,
"cds_start": 646,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001024215.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Arg216Cys",
"transcript": "NM_001350151.2",
"protein_id": "NP_001337080.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 373,
"cds_start": 646,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350151.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Arg216Cys",
"transcript": "ENST00000908346.1",
"protein_id": "ENSP00000578405.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 373,
"cds_start": 646,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908346.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Arg216Cys",
"transcript": "ENST00000908347.1",
"protein_id": "ENSP00000578406.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 373,
"cds_start": 646,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908347.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Arg216Cys",
"transcript": "ENST00000908348.1",
"protein_id": "ENSP00000578407.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 373,
"cds_start": 646,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908348.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Arg216Cys",
"transcript": "ENST00000908349.1",
"protein_id": "ENSP00000578408.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 373,
"cds_start": 646,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908349.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Arg216Cys",
"transcript": "ENST00000908350.1",
"protein_id": "ENSP00000578409.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 373,
"cds_start": 646,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908350.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Arg216Cys",
"transcript": "ENST00000908352.1",
"protein_id": "ENSP00000578411.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 373,
"cds_start": 646,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908352.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Arg216Cys",
"transcript": "ENST00000908353.1",
"protein_id": "ENSP00000578412.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 373,
"cds_start": 646,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908353.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Arg216Cys",
"transcript": "ENST00000908354.1",
"protein_id": "ENSP00000578413.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 373,
"cds_start": 646,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908354.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Arg216Cys",
"transcript": "ENST00000908355.1",
"protein_id": "ENSP00000578414.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 373,
"cds_start": 646,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908355.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Arg216Cys",
"transcript": "ENST00000908356.1",
"protein_id": "ENSP00000578415.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 373,
"cds_start": 646,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908356.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Arg216Cys",
"transcript": "ENST00000908358.1",
"protein_id": "ENSP00000578417.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 373,
"cds_start": 646,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908358.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Arg216Cys",
"transcript": "ENST00000908360.1",
"protein_id": "ENSP00000578419.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 373,
"cds_start": 646,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908360.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLIM1",
"gene_hgnc_id": 24686,
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Arg216Cys",
"transcript": "ENST00000908361.1",
"protein_id": "ENSP00000578420.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 373,
"cds_start": 646,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
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}